Genomics England
GMS Panels
Panels
Genes and Entities

MYO5A

myosin VA
OMIM: 160777
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ELEJALDE SYNDROME 256710, GRISCELLI SYNDROME TYPE 3 609227
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Griscelli syndrome, type 1, 214450, ELEJALDE SYNDROME (ELEJAS)
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GRISCELLI SYNDROME, TYPE 1, GS1, Griscelli syndrome